Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1146/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2467", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 7.158e-05, "gnomad_AFR_maf": 0.001046, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0009091, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.509619, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66288751, "genomic_position_hg38": 66521280, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.428895", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.734C>T", "protein_change": "p.Pro245Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2467/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2467/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2467/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2467/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2467/?format=api" } }, { "type": "SmallVariant", "id": "258", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.006868, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.007227, "gnomad_ASJ_maf": 0.01082, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003249, "gnomad_NFE_maf": 0.01032, "gnomad_OTH_maf": 0.008969, "gnomad_SAS_maf": 0.001633, "ESP_AA_maf": 0.0009099, "ESP_EA_maf": 0.01024 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.588566, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73002101, "genomic_position_hg38": 72709760, "chromosome": "15", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:42.047857", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.137A>G", "protein_change": "p.Lys46Arg", "transcript_id": "NM_001320665.1", "dbsnp_id": "rs75295839", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1116" }, { "type": "Combination", "id": "OLI1146" }, { "type": "Combination", "id": "OLI125" }, { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/258/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/258/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/258/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/258/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/258/?format=api" } }, { "type": "SmallVariant", "id": "2468", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.486007, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89336412, "genomic_position_hg38": 88870068, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.434690", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.889A>G", "protein_change": "p.Asn297Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2468/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2468/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2468/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2468/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2468/?format=api" } }, { "type": "SmallVariant", "id": "2469", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 1.612e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.897e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.807e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.634032, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56283893, "genomic_position_hg38": 58206532, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.440407", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1423C>T", "protein_change": "p.Arg475Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2469/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2469/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2469/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2469/gene/?format=api" }, "data": { "type": "Gene", "id": "MKS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2469/?format=api" } }, { "type": "SmallVariant", "id": "2470", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0114, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0429, "gnomad_maf": 0.01064, "gnomad_AFR_maf": 0.001732, "gnomad_AMR_maf": 0.00542, "gnomad_ASJ_maf": 0.006148, "gnomad_EAS_maf": 0.007235, "gnomad_FIN_maf": 0.002625, "gnomad_NFE_maf": 0.008122, "gnomad_OTH_maf": 0.008624, "gnomad_SAS_maf": 0.04366, "ESP_AA_maf": 0.001947, "ESP_EA_maf": 0.009708 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.86718, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88472996, "genomic_position_hg38": 88079219, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.446249", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5237G>A", "protein_change": "p.Arg1746Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2470/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2470/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2470/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2470/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2470/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 5 } }